Tractography study in a patient with hemidystonia-hemiatrophy syndrome.
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ABSTRACT:
SUBMITTER: Barcellos I
PROVIDER: S-EPMC6336368 | biostudies-literature | 2018 Mar-Apr
REPOSITORIES: biostudies-literature
Publications
Tractography study in a patient with hemidystonia-hemiatrophy syndrome.
Barcellos Igor I Vale Thiago Cardoso TC Pedroso José Luiz JL Tibana Luis Antônio Tobaru LAT Barsottini Orlando Graziani Povoas OGP
Movement disorders clinical practice 20180118 2
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Project description:BackgroundThere is no established pathogenesis of hemiparkinsonism-hemiatrophy syndrome (HPHA), and the varied clinical presentations have been reported in several case studies. To the best of our knowledge, the present report describes the first case of HPHA with unusual brain imaging findings.Case presentationA 20-year-old man presented with a 6-month history of weakness and clumsiness in his right limbs. He showed right-sided parkinsonism with dystonic hand posture; however, body asymmetry was not noted. Brain imaging revealed hemiatrophy of the left hemisphere subcortical structures and brainstem, and iron deposition in the left globus pallidus and substantia nigra. In addition, dopamine transporter imaging demonstrated normal presynaptic dopaminergic function. The patient was treated with levodopa, which had little to no effect.ConclusionsThis case demonstrates the unique imaging characteristics of HPHA associated with widespread brain hemiatrophy and iron deposition. Further studies are needed to elucidate the diagnostic criteria for this heterogeneous syndrome.
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| S-EPMC7174109 | biostudies-literature
Project description:BackgroundHemidystonia is defined as dystonia restricted to one side of the body. It is traditionally believed to result from a lesion in the contralateral hemisphere.ObjectivesTo describe a series of hemidystonia patients without lesions on brain imaging.MethodsWe searched for individuals with potential hemidystonia who were included in the Dystonia Coalition or Movement Disorder Society Genetic mutation database (MDSgene), and conducted a systematic review.ResultsWe found 10 individuals classified as hemidystonia or with homolateral limb dystonia among 3696 cases enrolled by the Dystonia Coalition, 9 cases in MDSgene, and one idiopathic case in the literature. None had evidence of a brain lesion. Body distributions used to define hemidystonia varied considerably and were not always restricted to one side of the body.ConclusionsHemidystonia may be idiopathic or genetic, without any obvious brain lesion. The varied use of the term suggests the need for more specific clinical criteria to define "half the body."
| S-EPMC10026294 | biostudies-literature
Project description:BackgroundDystonia is a syndrome with varied phenomenology but our understanding of its mechanisms is deficient. With neuroimaging techniques, such as fiber tractography (FT) and magnetoencephalography (MEG), pathway connectivity can be studied to that end. We present a hemidystonia patient treated with deep brain stimulation (DBS).MethodsAfter 10 years of left axial hemidystonia, a 45-year-old male underwent unilateral right globus pallidus internus (GPi) DBS. Whole brain MEG before and after anticholinergic medication was performed prior to surgery. 26-direction diffusion tensor imaging (DTI) was obtained in a 3 T MRI machine along with FT. The patient was assessed before and one year after surgery by using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS).ResultsIn the eyes-closed MEG study there was an increase in brain coherence in the gamma band after medication in the middle and inferior frontal region. FT demonstrated over 50% more intense ipsilateral connectivity in the right hemisphere compared to the left. After DBS, BFMDRS motor and disability scores both dropped by 71%.ConclusionMultimodal neuroimaging techniques can offer insights into the pathophysiology of dystonia and can direct choices for developing therapeutics. Unilateral pallidal DBS can provide significant symptom control in axial hemidystonia poorly responsive to medication.
| S-EPMC5514339 | biostudies-literature
Project description:BackgroundCerebral hemiatrophy syndromes can present with variable neurological symptoms. In childhood epilepsy, mental retardation and neuropsychiatric disorders are common while in adults movement disorders, such as highly asymmetric parkinsonism or hemidystonia as well as neuropsychiatric problems have been reported.MethodsHere, we present three adult patients with features that expand the clinical spectrum and give an overview of the most common clinical signs associated with this rare condition.ResultsAll three patients had prominent neuropsychiatric symptoms such as mood swings and increased irritability. Furthermore, one patient developed hemichorea which can be a rare presentation of cerebral hemiatrophy.ConclusionsCerebral hemiatrophy syndromes are a heterogeneous group of disorders that may also present with neuropsychiatric symptoms or hemichorea.
| S-EPMC6353474 | biostudies-literature
Project description: Not available
| S-EPMC5653631 | biostudies-literature
Project description:A 20-year-old man presented to the neurotrauma intensive care unit following blunt head injury. MRI revealed subarachnoid haemorrhage and multiple intraparenchymal haemorrhages suggesting severe brain injury. During recovery, the patient displayed intermittent episodes of alternating hemibody spasms with decerebrate/decorticate dystonic posturing. Episodes presented with autonomic dysregulation including hyperthermia, diaphoresis, tachypnoea, tachycardia and hypertension. Concern for seizure activity prompted simultaneous video monitoring and EEG testing. Results were without epileptiform activity suggesting against seizure as cause for alternating hemibody spasms. Paroxysmal autonomic instability with dystonia (PAID) was considered despite the unusual presentation. Intravenous hydromorphone was used for treatment, which relieved symptoms of autonomic dysregulation and dystonic posturing. PAID syndrome was diagnosed based on presentation with intermittent episodes of dystonia, autonomic dysregulation, absence of epileptiform activity and rapid response to opioid treatment. This case illustrates the clinical variability of this uncommon syndrome because alternating hemidystonia as main manifestation has not been previously described.
| S-EPMC4244337 | biostudies-literature
Project description:BackgroundThe cerebellum's role in dystonia is increasingly recognized. Dystonia can be a disabling and refractory condition; deep brain stimulation can help many patients, but it is traditionally less effective in acquired dystonia. New surgical targets would be instrumental in providing treatment options and understanding dystonia further.ObjectiveTo evaluate the efficacy of deep brain stimulation of the cerebellum in acquired dystonia.MethodsWe report our management of a 37-year-old woman with severe left arm and leg dystonia, a complication of an ischemic stroke in childhood. She had already had 2 thalamotomies with only transient benefit. These procedures, in addition to her initial stroke that had damaged the basal ganglia, left traditional deep brain stimulation targets unavailable.ResultsAfter implantation of bilateral deep cerebellar nuclei, dystonia improved with a 40% reduction in severity on scales and subjective reports of improved posturing, gait, and pain. This improvement has been maintained for almost 2 years after implantation.ConclusionCerebellar stimulation has potential for therapeutic benefit in acquired dystonia and should be further explored.
| S-EPMC7011833 | biostudies-literature
Project description:Most commonly, hemichorea associated with nonketotic and ketotic hyperglycemia resolves with normalization of blood glucose. Herein, we present a case of hyperosmolar hyperglycemic left hemichoreoathetosis-hemidystonia that has persisted for over 1 year. The subject presented to the emergency room with dysarthria and manifested left hemichoreoathetosis-hemidystonia within 36 h of admission. Initial computed tomography (CT) showed hyperdensity in the right putamen and left caudate. Magnetic resonance imaging (MRI) showed T1 hyperintensity within the right putamen. Failure to detect these classic imaging abnormalities during hospitalization resulted in a delayed etiologic diagnosis. Modest symptomatic improvement in the severity of hemichoreoathetosis-hemidystonia has been noted with low dose tetrabenazine.
| S-EPMC10623360 | biostudies-literature
Project description:BackgroundThe role of deep brain stimulation in the treatment of dystonia has been widely documented. However, there is limited literature on the outcome of lesioning surgery in unilateral dystonia.ObjectiveWe restrospectively reviewed our cases of focal and hemidystonia undergoing unilateral Pallidotomy at our institute to evaluate the short-term and long-term outcome.MethodsPatients who underwent radiofrequency lesioning of GPi for unilateral dystonia between 1999 and 2019 were retrospectively reviewed. All patients were evaluated using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and Dystonia Disability Scale (DDS) preoperatively at the short term follow-up (<1 year) and at long-term follow-up (2-7.5 years). Video recordings performed at these time points were independently reviewed by a blinded movement disorders specialist.ResultsEleven patients were included for analysis. The preoperative, short-term, and long-term follow-up motor BFMDRS and DDS scores were 15.5 (IQR [interquartile range]: 10.5, 23.75) and 10.5 (IQR: 6.0, 14.5); 3.0 (IQR: 1.0, 6.0, P = 0.02) and 3.0 (IQR: 3.0, 8.0, P = 0.016); and 14.25 (IQR: 4.0, 20.0, P = 0.20) and 10.5 (IQR: 2.0, 15.0, P = 0.71) respectively. For observers B, the BFMDRS scores at the same time points were 19 (IQR: 12.5, 27.0), 7.5 (IQR: 6.0, 15.0, P = 0.002), and 21 (IQR: 7.0, 22.0, P = 0.65) respectively. The improvement was statistically significant for all observations at short-term follow-up but not at long-term follow-up.ConclusionPallidotomy is effective for hemidystonia or focal dystonia in the short term. Continued benefit was seen in the longer term in some patients, whereas others worsened. Larger studies may be able to explain this in future.
| S-EPMC10828613 | biostudies-literature